OBJECTIVE: To document ophthalmic and general characteristics of Neurofibromatosis Type 1 (NF1) in children; and to characterize the iris changes of NF1 including their variability and reliability. DESIGN AND PATIENTS: One hundred and ninety-six patients with NF1 were evaluated for general characteristics; 156 patients underwent prospective eye evaluations; and 151 NF1 patients and controls had iris photography in accordance with a protocol. Masked evaluation of photographs compared to a known diagnosis, and interobserver reliability tests were performed. MAIN OUTCOME MEASURES: Incidence of iris changes consistent with NF1 (Lisch nodules, plus) by age group; spectrum of iris changes found; correlation of iris findings to known diagnosis and Kappa coefficients for interobserver reliability. RESULTS: Iris changes were common in children over age 5, and increased with age; masked evaluation of photographs compared to a known diagnosis yielded fair to poor correlation (Kappa = -.02 to .50); interobserver reliability was poor (Kappa = -.02 to .24, overall .174); iris changes found in NF1 are more diverse than classic descriptions of Lisch nodules, and including a broader spectrum probably increases the sensitivity and decreases the specificity of their diagnostic value. CONCLUSION: Iris changes as a diagnostic marker for NF1 may need rethinking; this study calls to question their reliability and validity.
OBJECTIVE: To document ophthalmic and general characteristics of Neurofibromatosis Type 1 (NF1) in children; and to characterize the iris changes of NF1 including their variability and reliability. DESIGN AND PATIENTS: One hundred and ninety-six patients with NF1 were evaluated for general characteristics; 156 patients underwent prospective eye evaluations; and 151 NF1patients and controls had iris photography in accordance with a protocol. Masked evaluation of photographs compared to a known diagnosis, and interobserver reliability tests were performed. MAIN OUTCOME MEASURES: Incidence of iris changes consistent with NF1 (Lisch nodules, plus) by age group; spectrum of iris changes found; correlation of iris findings to known diagnosis and Kappa coefficients for interobserver reliability. RESULTS: Iris changes were common in children over age 5, and increased with age; masked evaluation of photographs compared to a known diagnosis yielded fair to poor correlation (Kappa = -.02 to .50); interobserver reliability was poor (Kappa = -.02 to .24, overall .174); iris changes found in NF1 are more diverse than classic descriptions of Lisch nodules, and including a broader spectrum probably increases the sensitivity and decreases the specificity of their diagnostic value. CONCLUSION: Iris changes as a diagnostic marker for NF1 may need rethinking; this study calls to question their reliability and validity.
Authors: M Destro; D J D'Amico; E S Gragoudas; R J Brockhurst; M K Pinnolis; D M Albert; T M Topping; C A Puliafito Journal: Arch Ophthalmol Date: 1991-05
Authors: M Ruggieri; P Pavone; A Polizzi; M Di Pietro; A Scuderi; A Gabriele; A Spalice; P Iannetti Journal: Br J Ophthalmol Date: 2004-11 Impact factor: 4.638